Mutagenetix > Incidental Mutation

Incidental Mutation 'R6916:Atp6v1c1'

539375

Institutional Source

Beutler Lab

Gene Symbol

Atp6v1c1

Ensembl Gene

ENSMUSG00000022295

Gene Name

ATPase, H+ transporting, lysosomal V1 subunit C1

Synonyms

1700025B18Rik

MMRRC Submission

045037-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6916 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

38662177-38692690 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 38677825 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 117 (S117P)

Ref Sequence

ENSEMBL: ENSMUSP00000022904 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022904] [ENSMUST00000226533] [ENSMUST00000228820]

AlphaFold

Q9Z1G3

Predicted Effect

probably benign
Transcript: ENSMUST00000022904
AA Change: S117P

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000022904
Gene: ENSMUSG00000022295
AA Change: S117P

Domain	Start	End	E-Value	Type
Pfam:V-ATPase_C	4	370	1.2e-168	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000226533

Predicted Effect

probably benign
Transcript: ENSMUST00000228820

Meta Mutation Damage Score

0.1215

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.0%

Validation Efficiency

98% (59/60)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of intracellular compartments of eukaryotic cells. V-ATPase dependent acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c'', and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This gene is one of two genes that encode the V1 domain C subunit proteins and is found ubiquitously. This C subunit is analogous but not homologous to gamma subunit of F-ATPases. Previously, this gene was designated ATP6D. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	T	A	12: 71,211,318 (GRCm39)	I684K	possibly damaging	Het
Abcg3	T	A	5: 105,122,601 (GRCm39)	R97S	probably benign	Het
Acin1	A	T	14: 54,902,873 (GRCm39)	F160L	probably benign	Het
Aoc1l2	T	A	6: 48,907,987 (GRCm39)	I329N	probably benign	Het
Asb10	T	C	5: 24,742,854 (GRCm39)	D293G	probably damaging	Het
Bahcc1	T	A	11: 120,163,835 (GRCm39)	V711E	probably damaging	Het
Baz2b	A	T	2: 59,799,120 (GRCm39)	S335T	probably benign	Het
Bdkrb2	C	T	12: 105,558,038 (GRCm39)	A93V	probably damaging	Het
Cacna1d	A	T	14: 29,817,321 (GRCm39)	V1247D	probably damaging	Het
Cenpb	A	C	2: 131,021,544 (GRCm39)	F85V	probably benign	Het
Cep112	C	A	11: 108,750,202 (GRCm39)	Q142K	probably damaging	Het
Ciita	T	A	16: 10,327,071 (GRCm39)		probably null	Het
Cnr1	A	G	4: 33,943,897 (GRCm39)	D95G	probably benign	Het
Ctnnd1	A	T	2: 84,439,990 (GRCm39)	D767E	probably benign	Het
Ddx20	T	C	3: 105,587,929 (GRCm39)	N384D	probably damaging	Het
Dnaaf3	T	A	7: 4,530,532 (GRCm39)	D191V	probably damaging	Het
Efna1	T	C	3: 89,183,695 (GRCm39)	N44D	possibly damaging	Het
Errfi1	A	T	4: 150,951,930 (GRCm39)	K453*	probably null	Het
Fam149a	C	A	8: 45,803,443 (GRCm39)	K349N	probably damaging	Het
Fbxl20	T	A	11: 98,004,079 (GRCm39)	I70L	possibly damaging	Het
Flnb	C	T	14: 7,907,171 (GRCm38)	T1248I	probably damaging	Het
Frem2	T	C	3: 53,455,109 (GRCm39)	R2156G	probably damaging	Het
Ftl1	T	C	7: 45,108,964 (GRCm39)	Y31C	probably damaging	Het
Gm5862	G	T	5: 26,224,346 (GRCm39)	H208N	probably benign	Het
Hc	A	T	2: 34,900,044 (GRCm39)	Y1096*	probably null	Het
Hps1	ATCCTCCTCCTCCTCCTCCTCCTC	ATCCTCCTCCTCCTCCTCCTC	19: 42,755,164 (GRCm39)			Het
Ints3	T	C	3: 90,313,641 (GRCm39)	D329G	probably damaging	Het
Irak3	A	T	10: 120,037,270 (GRCm39)	L32Q	probably damaging	Het
Kifbp	T	C	10: 62,401,843 (GRCm39)	T20A	probably benign	Het
Klrb1f	A	T	6: 129,030,774 (GRCm39)	D95V	probably benign	Het
Krt79	C	T	15: 101,844,605 (GRCm39)	D260N	probably benign	Het
Lrp11	C	A	10: 7,484,478 (GRCm39)		probably null	Het
Lrrc10	C	A	10: 116,881,454 (GRCm39)	R43S	possibly damaging	Het
Muc5b	A	T	7: 141,418,454 (GRCm39)	Y3800F	possibly damaging	Het
Myh14	T	C	7: 44,278,737 (GRCm39)	K1003E	probably damaging	Het
Nbeal2	A	G	9: 110,455,176 (GRCm39)	I2567T	probably damaging	Het
Necab2	G	T	8: 120,194,355 (GRCm39)	R277L	probably damaging	Het
Nell1	T	C	7: 50,350,927 (GRCm39)	Y525H	probably benign	Het
Olfm4	T	A	14: 80,251,638 (GRCm39)	M186K	probably damaging	Het
Or10d1c	T	C	9: 38,894,200 (GRCm39)	I47V	probably benign	Het
Or1e29	T	A	11: 73,667,895 (GRCm39)	Q86L	probably benign	Het
Or2h2b-ps1	T	C	17: 37,480,864 (GRCm39)	K225R	probably benign	Het
Pcdhb11	A	T	18: 37,555,434 (GRCm39)	S255C	possibly damaging	Het
Rrbp1	A	T	2: 143,816,518 (GRCm39)	C704S	probably benign	Het
Rsrc1	C	T	3: 66,901,982 (GRCm39)	P44L	unknown	Het
Sh2d3c	C	T	2: 32,642,665 (GRCm39)	R552*	probably null	Het
Sh3d19	A	G	3: 85,992,218 (GRCm39)	E82G	probably benign	Het
Son	T	A	16: 91,451,673 (GRCm39)	L140Q	probably damaging	Het
Svil	G	A	18: 5,114,682 (GRCm39)		probably benign	Het
Syne1	T	C	10: 5,177,912 (GRCm39)	K4854R	probably benign	Het
Tlcd4	T	C	3: 121,000,805 (GRCm39)	D276G	possibly damaging	Het
Tmem202	C	A	9: 59,432,757 (GRCm39)		probably benign	Het
Trak2	T	C	1: 58,949,184 (GRCm39)	T539A	probably benign	Het
Trdn	T	C	10: 33,033,014 (GRCm39)	S80P	probably damaging	Het
Ugt2b37	T	A	5: 87,402,459 (GRCm39)	R57S	probably benign	Het
Usp34	G	A	11: 23,408,023 (GRCm39)	R2616Q	probably damaging	Het
Usp48	T	C	4: 137,365,544 (GRCm39)	Y113H	probably damaging	Het
Vtcn1	G	T	3: 100,795,479 (GRCm39)		probably null	Het
Wdr19	G	A	5: 65,382,677 (GRCm39)	R467Q	possibly damaging	Het
Wdr72	A	G	9: 74,062,321 (GRCm39)	Y489C	probably benign	Het
Wipf1	C	A	2: 73,267,748 (GRCm39)	G217W	probably damaging	Het

Other mutations in Atp6v1c1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00496:Atp6v1c1	APN	15	38,687,100 (GRCm39)	missense	probably damaging	0.99
IGL01371:Atp6v1c1	APN	15	38,683,204 (GRCm39)	missense	probably benign
IGL02987:Atp6v1c1	APN	15	38,690,806 (GRCm39)	missense	possibly damaging	0.70
P0029:Atp6v1c1	UTSW	15	38,687,146 (GRCm39)	unclassified	probably benign
R0550:Atp6v1c1	UTSW	15	38,683,173 (GRCm39)	splice site	probably benign
R0669:Atp6v1c1	UTSW	15	38,677,772 (GRCm39)	missense	probably benign	0.00
R2033:Atp6v1c1	UTSW	15	38,674,210 (GRCm39)	critical splice donor site	probably null
R3021:Atp6v1c1	UTSW	15	38,689,460 (GRCm39)	missense	possibly damaging	0.75
R4475:Atp6v1c1	UTSW	15	38,677,817 (GRCm39)	missense	probably benign	0.03
R4612:Atp6v1c1	UTSW	15	38,677,856 (GRCm39)	missense	probably damaging	1.00
R4798:Atp6v1c1	UTSW	15	38,689,420 (GRCm39)	missense	probably damaging	1.00
R5095:Atp6v1c1	UTSW	15	38,679,657 (GRCm39)	critical splice donor site	probably null
R5600:Atp6v1c1	UTSW	15	38,687,107 (GRCm39)	missense	probably benign	0.17
R6177:Atp6v1c1	UTSW	15	38,674,172 (GRCm39)	nonsense	probably null
R6434:Atp6v1c1	UTSW	15	38,677,790 (GRCm39)	missense	probably damaging	0.99
R6973:Atp6v1c1	UTSW	15	38,690,794 (GRCm39)	missense	probably damaging	1.00
R7395:Atp6v1c1	UTSW	15	38,691,949 (GRCm39)	makesense	probably null
R7607:Atp6v1c1	UTSW	15	38,683,255 (GRCm39)	critical splice donor site	probably null
R7712:Atp6v1c1	UTSW	15	38,687,049 (GRCm39)	missense	probably benign	0.00
R8830:Atp6v1c1	UTSW	15	38,677,789 (GRCm39)	missense	probably damaging	0.98
R9195:Atp6v1c1	UTSW	15	38,674,198 (GRCm39)	missense	probably damaging	1.00
R9640:Atp6v1c1	UTSW	15	38,689,381 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGCCTGTGTTAAAAGCAAGC -3'
(R):5'- TTTGGGACCACTAACCACAGG -3'

Sequencing Primer
(F):5'- TGGATCTCTAAGTTAAAGGCCAGCC -3'
(R):5'- AACCGTGATGGGTCGCTG -3'

Posted On

2018-11-06